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A nonsense PAX6 mutation in a family with congenital aniridia
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we repo...
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| Publicat a: | Korean J Pediatr |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
The Korean Pediatric Society
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5177687/ https://ncbi.nlm.nih.gov/pubmed/28018434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S1 |
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